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Neuropathology and Applied Neurobiology, 1978
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroidâlipofuscinoses, a heterogeneous group of diseases
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The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroidâlipofuscinoses, a heterogeneous group of diseases
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Current Treatment Options in Neurology, 2001
Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Lysosomal Glycosphingolipid Storage Diseases
Annual Review of Biochemistry, 2019Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acidâcontaining glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide.
Bernadette, Breiden, Konrad, Sandhoff
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Lysosomal Storage Diseases in Adults
Pathology - Research and Practice, 1994Most lysosomal storage disorders are known as pediatric diseases. In recent years late onset and adult forms of these disorders have been recognized. The adult form of a given lysosomal storage disorder differs from the childhood disease in several respects. Adult disorders are, with some exceptions, less common than the childhood diseases.
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Lysosomal Storage Diseases in Livestock
Veterinary Clinics of North America: Food Animal Practice, 1993Lysosomal storage diseases may be inherited or acquired. The former are usually inherited as autosomal traits, and heterozygotes may be identified by having enzyme activity levels approximately midway between normal and diseased values. Founder effect, enhanced by widespread acceptance of artificial breeding technologies, has been important in the ...
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[Lysosomes and lysosomal storage diseases].
Journal de la Societe de biologie, 2002Lysosomal storage disorders (LSDs) are monogenic inborn errors of metabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate, and new entities are still being identified. They are severe disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement, and ...
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Nihon rinsho. Japanese journal of clinical medicine, 1996
Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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